UMass researchers find ALS link

Researchers at the University of Massachusetts Medical School have uncovered new evidence suggesting a link between familial ALS and sporadic ALS.

In a study published today in Nature Neuroscience, scientists said the SOD1 gene, which is implicated in 20 percent of inherited cases of ALS, or Lou Gehrig's disease, also plays a part in sporadic forms of the disease.

ALS — amyotrophic lateral sclerosis — is a progressive, neurodegenerative disorder that affects the central nervous system. An estimated 5,000 people in the United States are diagnosed with the disease every year. The disease can lead to loss of voluntarily muscle movement, paralysis and eventually death from respiratory failure.

Only 10 percent of ALS cases are familial, while roughly 90 percent are sporadic; for sporadic ALS, there is no identifiable familial risk or family history.

While the SOD1 gene has long been known to play a role in familial ALS, scientists suspected a connection to the more common form of ALS, for which there is no known cause, and sought to establish a shared pathological pathway, UMass said in a news release.

“This common ALS pathology between sporadic and familial ALS means that current gene silencing and immunotherapeutic treatments being developed in academic and commercial labs that target the mutant SOD1 gene may be extended to target non-mutant SOD1 protein found in sporadic ALS cases,” Daryl Bosco, assistant professor of neurology and lead author of the study, said in the release.